Gaucher's Disease is associated with the accumulation of which substance?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Gaucher's Disease is specifically associated with the accumulation of glucocerebrosides, which are a type of glycolipid. This condition is caused by a deficiency of the enzyme glucocerebrosidase, which is responsible for breaking down glucocerebrosides into glucose and ceramide. When this enzyme is deficient, glucocerebrosides build up in macrophages, leading to the characteristic symptoms of the disease, including hepatosplenomegaly, bone pain, and the development of Gaucher cells.

The other substances mentioned in the options are associated with different lysosomal storage diseases. For example, galactocerebrosides are linked to Krabbe disease, while sulfatides are associated with metachromatic leukodystrophy. Lastly, ceramide trihexosides relate to Fabry disease. Thus, the specific accumulation of glucocerebrosides is a hallmark of Gaucher's Disease, making it the correct answer.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy